Variant report

Variant	esv3382071
Chromosome Location	chr1:103501164-103503012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188198015	chr1:103501198-103501199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558690174	chr1:103501206-103501207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568653615	chr1:103501223-103501224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535644378	chr1:103501259-103501260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114324964	chr1:103501266-103501267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572361275	chr1:103501280-103501281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539732696	chr1:103501298-103501299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71664968	chr1:103501339-103501340	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs71795715	chr1:103501377-103501378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576333964	chr1:103501405-103501406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115451563	chr1:103501486-103501487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10493991	chr1:103501499-103501500	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574579807	chr1:103501517-103501518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115393254	chr1:103501537-103501538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560380554	chr1:103501705-103501706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192342221	chr1:103501710-103501711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371294391	chr1:103501772-103501773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79381672	chr1:103501784-103501785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564144323	chr1:103501851-103501852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201807108	chr1:103501879-103501880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71094592	chr1:103501894-103501895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3056958	chr1:103501902-103501903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66537458	chr1:103501904-103501905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7531787	chr1:103501910-103501911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549870963	chr1:103501938-103501939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568016604	chr1:103501967-103501968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537403947	chr1:103502067-103502068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547567485	chr1:103502076-103502077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529453858	chr1:103502090-103502091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547622506	chr1:103502110-103502111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34765476	chr1:103502139-103502140	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183269847	chr1:103502165-103502166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116534223	chr1:103502168-103502169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377579210	chr1:103502208-103502209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35138059	chr1:103502297-103502298	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116317685	chr1:103502326-103502327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186886035	chr1:103502335-103502336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574092473	chr1:103502350-103502351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115732270	chr1:103502357-103502358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542926818	chr1:103502368-103502369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572254172	chr1:103502500-103502501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141072902	chr1:103502535-103502536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564197476	chr1:103502539-103502540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531338802	chr1:103502551-103502552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546318607	chr1:103502571-103502572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374147899	chr1:103502579-103502580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35368333	chr1:103502580-103502581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191358318	chr1:103502582-103502583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142070181	chr1:103502593-103502594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528998472	chr1:103502596-103502597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:103460200-103516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:103475800-103516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:103489200-103516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:103489600-103506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:103491600-103503800	Weak transcription	NH-A	brain
7	chr1:103495600-103503600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:103499200-103505200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:103500600-103502800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:103502800-103505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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